For the Ashkenazi/Eastern European Jewish Girls

Hi! I'm here to offer some unsolicited advice, but if I can save anyone the agony I went through the last week and a half, I'd really like to.

I was only on this board a short time, I was very lucky and got a BFP quickly.

Both my DH and I are Ashkenazi Jews. I always knew that there were certain genetic things that we should be tested for, and but we somehow never did it.

Well, when I went to the dr. a week after getting the BFP, he did blood work, and it turns out that I am a carrier of Tay Sachs disease. Its a really awful disease and is fatal. Most children with it don't last past 5 years old.

I was in tears, and he told me not to stress yet - If DH was not a carrier, than there is absolutely no need to worry. If DH was a carrier, then there was a 25% chance that the baby would have Tay Sachs , 75% chance it would be fine. So DH was sent for blood work and THANK GD he is not a carrier. It was so hard to wait this week for the results.

So, my advice to anyone of ashkenazi Jewish decent, is to get tested before you conceive. You don't want to go through the agony I went through this week. One out of 30 Ashkenazi Jews are carriers. To make you feel better, my dr. told me in 20 years he has never seen a couple where both spouses were carriers, and thank Gd we weren't the first. So, I would do the test for peace of mind now if both you and DH are of ashkenazi decent.

I'm sorry if this upset or scared anyone - that was not my intent, but I so wish I was tested before the BFP, this week is absolute torture.

Re: For the Ashkenazi/Eastern European Jewish Girls

well first of all i am SO glad your DH is not a carrier. i agree that it is very good advice to get that testing done before TTC if you meet the criteria. i am also of ashkenazi descent but luckily, i am not a carrier, and my DH is 100% italian.

i hope you have a wonderful and easy, care-free 9 months.

Re: For the Ashkenazi/Eastern European Jewish Girls

Posted by headoverheels

well first of all i am SO glad your DH is not a carrier. i agree that it is very good advice to get that testing done before TTC if you meet the criteria. i am also of ashkenazi descent but luckily, i am not a carrier, and my DH is 100% italian.

i hope you have a wonderful and easy, care-free 9 months.

Re: For the Ashkenazi/Eastern European Jewish Girls

hmm thats a good remind.. im ashkenazi and DH is half ashkenazi and a quarter italian a quarter irish lol.

this is our first month of TTC and we havent been tested yet. where do we go to get this done?? i have a routine appointment with a new ob/gyn in June (and the appointment took months to get) but we are going on vacation on the 15th and have never had this test..... can a regular doctor do it? how long do the results take? thanks!

Re: For the Ashkenazi/Eastern European Jewish Girls

My OB sent me to a lab (Quest Diagnostics) to get the blood work done. I believe any doctor can order the test. It took a week for mine. Then DH went, and we had the wait the horrible week for his.
I would recommend both of you getting it done at the same time, because waiting for DH's results was pure torture. If we were tested at the same time, we would have known immediately that there was no problem.
good luck!

Re: For the Ashkenazi/Eastern European Jewish Girls

thanks for the info. now im sorta stressed cause i am working every single day until i leave on the 15th...yikes...not sure if i could get DH and I to the same doctor prior to that..

Message edited 5/6/2009 10:34:00 PM.

Re: For the Ashkenazi/Eastern European Jewish Girls

I had it done too and just wanted to let the girls know it is valuable but it can be expensive - it cost us over $1000 so check your deductables....Thankfully I am not a carrier, but it is really good for peace of mind. Mine was 13 vials of blood - so just prepare your self b/c it is a lot. Also, they generally do the woman first and then if she is a carrier they will also test the DH so you don't need to have both of you tested the same day.

Re: For the Ashkenazi/Eastern European Jewish Girls

ok maybe ill see if i can get tested on friday if possible and wait on DH.

thanks soooo much for the help and the warning about the blood!!

so i can get a script for this from my regular doctor and then go to a lab?? how does it work again?

Re: For the Ashkenazi/Eastern European Jewish Girls

Re: For the Ashkenazi/Eastern European Jewish Girls

no no its totally OK!! im glad for the reminder. i had always known about this and wanted to get genetic testing done but DH popped the "im ready to TTC" earlier than i expected so i never pushed to get the tests done prior/

didnt mean to bogart this post either lol. i hope its helpful to others who may have forgotten. im going to try and get tested tomorrow or friday so i can get the results before i leave next friday. hopefully im not a carrier so DH wont even have to get tested.

Re: For the Ashkenazi/Eastern European Jewish Girls

This may be a stupid question, but I'll risk it. I want to go to the doc to have this done, but I don't know where to go. Will my OB test us or should we go to our general pratcitioners?

Message edited 5/7/2009 8:15:58 AM.

Re: For the Ashkenazi/Eastern European Jewish Girls

Re: For the Ashkenazi/Eastern European Jewish Girls

I always wonder why they don't encourage more people to do genetic testing before TTC instead of right after you are already pregnant. However, before going to get the tests I think that people really need to consider what they will do if they test positive. If my baby had a 25% chance of having something horrible like this, I think I would probably still try to have my own children. It would make you more prepared going into it I suppose but there is still nothing you can really do about. Although I am not really that knowledgeable about all of this, perhaps you can get an embryo tested before it is transferred if you are doing in vitro.....

Re: For the Ashkenazi/Eastern European Jewish Girls